Bohring-Opitz Syndrome Foundation, Inc.
"The Best Life for All Families Living with BOS"

BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories


I had a healthy pregnancy. At my 38 week check­up, the midwives were concerned about Hazel’s vitals. They did an ultrasound and discovered she was very small. I was induced that evening. Hazel was born 4lbs9oz and was 17 inches long. While trying to feed her the following day, she turned dusky and was whisked to the NICU. She was silently aspirating. She spent a month in the NICU before leaving with a G­tube.

She immediately began getting OT for feeding. It was very challenging to find the right nipple that would work for her (she had a weak suck) and the right thickness of milk. After about six months of therapy and finding the Nuk orthodontic nipples, I was able to try to exclusively feed her by mouth. It was scary, as I was terrified she’d start aspirating again. She never showed clinical signs of aspirating, so at 9 months they let us take out the G-tube.

During this time we kept searching for a diagnosis. She was tested for Prader­Willi and had the microarray done. All tests kept coming back normal, which was both a relief and a  puzzle. She was recently diagnosed with occipital lobe seizures and takes Trileptal. She also battles constant constipation and is on Miralax daily for that.

Hazel now feeds exclusively by mouth but mainly formula and some purees. She still lacks the maturity for real solid foods, but we practice.

Hazel began rolling over after the G­tube came out, and she has head control but can tire easily and prefers to lean her head against support if it’s available. She cannot sit on her own but she’s working on it. She isn’t crawling yet, although she sure can roll across the floor!

She is starting to make new sounds, but isn’t verbal. But she can certainly communicate pleasure and displeasure!

Hazel was diagnosed with BOS at 20 months old through whole exome sequencing. We started a new journey in trying to understand this very rare syndrome.

She loves being outdoors, enjoys playing with her dad, and really responds to lights. She likes textures and feeling rough things especially. She is known for her masses of curly blond hair and her mint green glasses. She is the sweetest, toughest girl we know!

Taylor Gurganus1 Comment